A Possible New Variant of G-6-PD with Decreased Activity (G-6-PD-Utrecht) in a Dutch Family with Hereditary Spherocytosis
| Autor: | G. E. J. Staal, K. Punt, Miss H. Bartstra, R. A. Geerdink, Miss C. C. Bos |
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| Rok vydání: | 2009 |
| Předmět: |
Electrophoresis
Male Genetics Erythrocytes Hot Temperature Erythrocytes Abnormal Spherocytosis Hereditary Hematology Glucosephosphate Dehydrogenase New variant Biology medicine.disease Pedigree Hereditary spherocytosis Kinetics Glucosephosphate Dehydrogenase Deficiency medicine Humans Female Three generations |
| Zdroj: | Scandinavian Journal of Haematology. 7:401-403 |
| ISSN: | 0036-553X |
| DOI: | 10.1111/j.1600-0609.1970.tb01921.x |
| Popis: | Three generations of a Dutch family were studied in which two unrelated genetic abnormalities of the red cells were present, namely hereditary spherocytosis and a deficiency of G-6-PD. The physical and biological characteristics of the enzyme were determined. The G-6-PD variant differs from all other G-6-PD variants described in the literature. Preliminary it is given the name of G-6-PD-Utrecht. |
| Databáze: | OpenAIRE |
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